Molecular study of the perforin gene in familial hematological malignancies

Hereditary Cancer in Clinical Practice

Volumn 9, Issue 1, 2011, Pages

  El Abed, Rim ^a   Bourdon, Violaine ^b   Voskoboinik, Ilia ^c   Omri, Halima ^d   Youssef, Yosra B ^a,d   Laatiri, Mohamed A ^d   Huiart, Laetitia ^b   Eisinger, François ^b   Rabayrol, Laetitia ^b   Frenay, Marc ^e   Gesta, Paul ^f   Demange, Liliane ^g   Dreyfus, Hélène ^h   Bonadona, Valérie ⁱ   Dugast, Catherine ^j   Zattara, Hélène ^k   Faivre, Laurence ^l,m   Zaier, Monia ^a,d   Jemni, Saloua Y ^d   Noguchi, Testsuro ^b   Sobol, Hagay ^b,n   Soua, Zohra ^a   more..

^a UNIVERSITY OF SOUSSE   (Tunisia)

^b INSTITUT PAOLI CALMETTES   (France)

^c PETER MACCALLUM CANCER CENTRE   (Australia)

^d FARHAT HACHED HOSPITAL   (Tunisia)

^e CENTRE ANTOINE LACASSAGNE   (France)

^f CHG Niort   (France)

^g Polyclinique de Courlancy   (France)

^h Institut Ste Catherine   (France)

ⁱ CENTRE LÉON BÉRARD   (France)

^j CENTRE EUGÈNE MARQUIS   (France)

^k TIMONE HOSPITAL   (France)

^l Medical University of Dijon   (France)

^m CENTRE GEORGES FRANÇOIS LECLERC   (France)

ⁿ AIX MARSEILLE UNIVERSITY   (France)

more..

Author keywords

Germline mutation; Hematological familial malignancies; PRF1

Indexed keywords

ALANINE; ASPARAGINE; MESSENGER RNA; PERFORIN; SERINE; VALINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CHROMOSOME ANALYSIS; FAMILIAL CANCER; FEMALE; FRANCE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEMATOLOGIC MALIGNANCY; HODGKIN DISEASE; HUMAN; LEUKEMIA CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONHODGKIN LYMPHOMA; NONHUMAN; PATHOGENICITY; PROTEIN STRUCTURE; RAT; STRUCTURAL BIOINFORMATICS; TUNISIA; WILD TYPE;

EID: 84862142857     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-9-9     Document Type: Article

References (45)

1. Grakoui A, Bromley SK, Sumen C, Davis MM, Shaw AS, Allen PM, Dustin ML. The immunological synapse: a molecular machine controlling T cell activation. Science 1999, 285:221-227. 10.1126/science.285.5425.221, 10398592.
2. Stinchcombe JC, Bossi G, Booth S, Griffiths GM. The immunological synapse of CTL contains a secretory domain and membrane bridges. Immunity 2001, 15:751-761. 10.1016/S1074-7613(01)00234-5, 11728337.
3. Lieberman J. The ABCs of granule-mediated cytotoxicity: new weapons in the arsenal. Nat Rev Immunol 2003, 3:361-370. 10.1038/nri1083, 12766758.
4. Russell JH, Ley TJ. Lymphocyte-mediated cytotoxicity. Annu Rev Immunol 2002, 20:323-370. 10.1146/annurev.immunol.20.100201.131730, 11861606.
5. Bolitho P, Voskoboinik I, Trapani JA, Smyth MJ. Apoptosis induced by the lymphocyte effector molecule perforin. Curr Opin Immunol 2007, 19:339-347. 10.1016/j.coi.2007.04.007, 17442557.
6. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999, 286:1957-1959. 10.1126/science.286.5446.1957, 10583959.
7. Goransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Soderhall C, Samuelsson A, Janka G, Schneider M, Gurgey A, Yalman N, Revesz T, et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 2001, 68:590-597. 10.1086/318796, 1274472, 11179007.
8. Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, Sako M, Yanai F, Fukushima T, Nakayama M, et al. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. Br J Haematol 2003, 121:503-510. 10.1046/j.1365-2141.2003.04298.x, 12716377.
9. Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, Ohshima K, Hara T. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol 2002, 116:346-349. 10.1046/j.1365-2141.2002.03266.x, 11841437.
10. Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet 2004, 41:137-144. 10.1136/jmg.2003.011528, 1735659, 14757862.
11. Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood 2002, 99:61-66. 10.1182/blood.V99.1.61, 11756153.
12. Ishii E, Ohga S, Imashuku S, Kimura N, Ueda I, Morimoto A, Yamamoto K, Yasukawa M. Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences. Crit Rev Oncol Hematol 2005, 53:209-223. 10.1016/j.critrevonc.2004.11.002, 15718147.
13. Imashuku S, Ueda I, Teramura T, Mori K, Morimoto A, Sako M, Ishii E. Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients. Eur J Pediatr 2005, 164:315-319. 10.1007/s00431-005-1636-9, 15731905.
14. Feldmann J, Le Deist F, Ouachee-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol 2002, 117:965-972. 10.1046/j.1365-2141.2002.03534.x, 12060139.
15. Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, et al. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet 2001, 38:643-646. 10.1136/jmg.38.9.643, 1734943, 11565555.
16. Katano H, Ali MA, Patera AC, Catalfamo M, Jaffe ES, Kimura H, Dale JK, Straus SE, Cohen JI. Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation. Blood 2004, 103:1244-1252.
17. Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, Danesino C, Arico M. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood 2002, 100:2266-2267. 10.1182/blood-2002-04-1030, 12229880.
18. Clementi R, Dagna L, Dianzani U, Dupre L, Dianzani I, Ponzoni M, Cometa A, Chiocchetti A, Sabbadini MG, Rugarli C, et al. Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. N Engl J Med 2004, 351:1419-1424. 10.1056/NEJMoa041432, 15459303.
19. Clementi R, Locatelli F, Dupre L, Garaventa A, Emmi L, Bregni M, Cefalo G, Moretta A, Danesino C, Comis M, et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood 2005, 105:4424-4428. 10.1182/blood-2004-04-1477, 15728124.
20. Bolitho P, Street SE, Westwood JA, Edelmann W, Macgregor D, Waring P, Murray WK, Godfrey DI, Trapani JA, Johnstone RW, Smyth MJ. Perforin-mediated suppression of B-cell lymphoma. Proc Natl Acad Sci USA 2009, 106:2723-2728. 10.1073/pnas.0809008106, 2650333, 19196996.
21. Corthay A, Skovseth DK, Lundin KU, Rosjo E, Omholt H, Hofgaard PO, Haraldsen G, Bogen B. Primary antitumor immune response mediated by CD4+ T cells. Immunity 2005, 22:371-383. 10.1016/j.immuni.2005.02.003, 15780993.
22. Street SE, Hayakawa Y, Zhan Y, Lew AM, MacGregor D, Jamieson AM, Diefenbach A, Yagita H, Godfrey DI, Smyth MJ. Innate immune surveillance of spontaneous B cell lymphomas by natural killer cells and gammadelta T cells. J Exp Med 2004, 199:879-884. 10.1084/jem.20031981, 2212720, 15007091.
23. Zitvogel L, Tesniere A, Kroemer G. Cancer despite immunosurveillance: immunoselection and immunosubversion. Nat Rev Immunol 2006, 6:715-727. 10.1038/nri1936, 16977338.
24. Kagi D, Vignaux F, Ledermann B, Burki K, Depraetere V, Nagata S, Hengartner H, Golstein P. Fas and perforin pathways as major mechanisms of T cell-mediated cytotoxicity. Science 1994, 265:528-530. 10.1126/science.7518614, 7518614.
25. Smyth MJ, Thia KY, Cretney E, Kelly JM, Snook MB, Forbes CA, Scalzo AA. Perforin is a major contributor to NK cell control of tumor metastasis. J Immunol 1999, 162:6658-6662.
26. Smyth MJ, Thia KY, Street SE, MacGregor D, Godfrey DI, Trapani JA. Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma. J Exp Med 2000, 192:755-760. 10.1084/jem.192.5.755, 2193269, 10974040.
27. van den Broek ME, Kagi D, Ossendorp F, Toes R, Vamvakas S, Lutz WK, Melief CJ, Zinkernagel RM, Hengartner H. Decreased tumor surveillance in perforin-deficient mice. J Exp Med 1996, 184:1781-1790. 10.1084/jem.184.5.1781, 2192859, 8920866.
28. Yuille MR, Matutes E, Marossy A, Hilditch B, Catovsky D, Houlston RS. Familial chronic lymphocytic leukaemia: a survey and review of published studies. Br J Haematol 2000, 109:794-799. 10.1046/j.1365-2141.2000.02111.x, 10929032.
29. Houlston RS, Catovsky D, Yuille MR. Genetic susceptibility to chronic lymphocytic leukemia. Leukemia 2002, 16:1008-1014. 10.1038/sj.leu.2402538, 12040432.
30. Bielawski K, Zaczek A, Lisowska U, Dybikowska A, Kowalska A, Falkiewicz B. The suitability of DNA extracted from formalin-fixed, paraffin-embedded tissues for double differential polymerase chain reaction analysis. Int J Mol Med 2001, 8:573-578.
31. Greer CE, Wheeler CM, Manos MM. Sample preparation and PCR amplification from paraffin-embedded tissues. PCR Methods Appl 1994, 3:S113-122.
32. Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006, 43:295-305. 2563222, 16014699.
33. Tong W, Li L, Weng Z. Computational prediction of binding hotspots. Conf Proc IEEE Eng Med Biol Soc 2004, 4:2980-2983.
34. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003, 31:3568-3571. 10.1093/nar/gkg616, 169022, 12824367.
35. Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 2006, 15:2490-2508. 10.1093/hmg/ddl171, 16825284.
36. Fairbrother WG, Yeh RF, Sharp PA, Burge CB. Predictive identification of exonic splicing enhancers in human genes. Science 2002, 297:1007-1013. 10.1126/science.1073774, 12114529.
37. Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, Darcy PK, Jane SM, Smyth MJ, Trapani JA. The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. J Exp Med 2004, 200:811-816. 10.1084/jem.20040776, 2211966, 15365097.
38. Voskoboinik I, Thia MC, Trapani JA. A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. Blood 2005, 105:4700-4706. 10.1182/blood-2004-12-4935, 15755897.
39. Clementi R, Chiocchetti A, Cappellano G, Cerutti E, Ferretti M, Orilieri E, Dianzani I, Ferrarini M, Bregni M, Danesino C, et al. Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood 2006, 108:3079-3084. 10.1182/blood-2006-02-001412, 16720836.
40. Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS. Perforin gene mutations in patients with acquired aplastic anemia. Blood 2007, 109:5234-5237. 10.1182/blood-2006-12-063495, 1890825, 17311987.
41. Voskoboinik I, Sutton VR, Ciccone A, House CM, Chia J, Darcy PK, Yagita H, Trapani JA. Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function. Blood 2007, 110:1184-1190. 10.1182/blood-2007-02-072850, 17475905.
42. Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet 2002, 3:415-428.
43. Esteller M, Corn PG, Baylin SB, Herman JG. A gene hypermethylation profile of human cancer. Cancer Res 2001, 61:3225-3229.
44. Lu Q, Wu A, Ray D, Deng C, Attwood J, Hanash S, Pipkin M, Lichtenheld M, Richardson B. DNA methylation and chromatin structure regulate T cell perforin gene expression. J Immunol 2003, 170:5124-5132.
45. Gao XN, Lin J, Wang LL, Yu L. Demethylating treatment suppresses natural killer cell cytolytic activity. Mol Immunol 2009, 46:2064-2070. 10.1016/j.molimm.2009.02.033, 19394699.